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Specific functional pathologies of Cx43 mutations associated with oculodentodigital dysplasia
Oculodentodigital dysplasia (ODDD) is a rare genetic disease that affects the development of multiple organs in the human body. More than 70 mutations in the gap junction connexin43 (Cx43) gene, GJA1, are associated with ODDD, most of which are inherited in an autosomal dominant manner. Many patient...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The American Society for Cell Biology
2016
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4945137/ https://www.ncbi.nlm.nih.gov/pubmed/27226478 http://dx.doi.org/10.1091/mbc.E16-01-0062 |